Variant report

Variant	rs142299867
Chromosome Location	chr15:77925705-77925706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:77925511-77926168	Hela-S3	cervix:	n/a	chr15:77925671-77925678
2	HEY1	chr15:77925341-77926055	K562	blood:	n/a	chr15:77925888-77925903 chr15:77925417-77925432
3	TAF7	chr15:77925687-77926502	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:77925671-77926183	HCT-116	colon:	n/a	n/a
5	POLR2A	chr15:77925129-77926145	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr15:77925014-77926048	K562	blood:	n/a	n/a
7	POLR2A	chr15:77925358-77926122	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr15:77925474-77926231	HepG2	liver:	n/a	chr15:77925671-77925678
9	MAX	chr15:77925474-77926117	SK-N-SH	brain:	n/a	chr15:77925671-77925678
10	ZBTB7A	chr15:77925228-77926263	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr15:77925029-77926147	K562	blood:	n/a	chr15:77925671-77925678
12	SMC3	chr15:77925583-77926214	K562	blood:	n/a	chr15:77925870-77925880 chr15:77925948-77925962 chr15:77925912-77925922 chr15:77926007-77926021
13	SMC3	chr15:77925473-77927244	SK-N-SH	brain:	n/a	chr15:77925870-77925880 chr15:77925948-77925962 chr15:77925912-77925922 chr15:77926954-77926964 chr15:77926950-77926958 chr15:77926950-77926964 chr15:77926007-77926021
14	ZNF263	chr15:77923899-77927072	HEK293-T-REx	kidney:	n/a	chr15:77924758-77924767 chr15:77926052-77926061 chr15:77925322-77925331 chr15:77926338-77926347
15	POLR2A	chr15:77925508-77925981	K562	blood:	n/a	n/a
16	POLR2A	chr15:77925160-77926258	SK-N-MC	brain:	n/a	n/a
17	MAX	chr15:77925589-77926028	HepG2	liver:	n/a	chr15:77925671-77925678
18	CTCF	chr15:77925556-77926199	GM12891	blood:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
19	CTCF	chr15:77925566-77925734	GM10248	blood:	n/a	n/a
20	CTCF	chr15:77925418-77926460	MCF-7	breast:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028 chr15:77926344-77926353
21	CTCF	chr15:77925573-77926424	GM19238	blood:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028 chr15:77926344-77926353
22	ZNF263	chr15:77924464-77926639	K562	blood:	n/a	chr15:77924758-77924767 chr15:77926052-77926061 chr15:77925322-77925331 chr15:77926338-77926347
23	MTA3	chr15:77925546-77926216	GM12878	blood:	n/a	n/a
24	CTCF	chr15:77925580-77925759	Fibrobl	skin:	n/a	n/a
25	BACH1	chr15:77925619-77926520	H1-hESC	embryonic stem cell:	n/a	n/a
26	BCL3	chr15:77925412-77926262	A549	lung:	n/a	chr15:77925420-77925433
27	CTCF	chr15:77925671-77926253	HepG2	liver:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
28	CTCF	chr15:77925697-77926153	ECC-1	luminal epithelium:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
29	CTCF	chr15:77925600-77925722	Lung_OC	lung:	n/a	n/a
30	MXI1	chr15:77925637-77926993	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr15:77925361-77926571	IMR90	lung:	n/a	n/a
32	TCF12	chr15:77925470-77926193	ECC-1	luminal epithelium:	n/a	chr15:77926169-77926179 chr15:77925956-77925966
33	MAX	chr15:77925431-77926105	SK-N-SH	brain:	n/a	chr15:77925671-77925678
34	CTCF	chr15:77925376-77926506	HCT-116	colon:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028 chr15:77926344-77926353
35	E2F6	chr15:77925342-77926317	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr15:77925619-77925720	MCF-7	breast:	n/a	n/a
37	E2F6	chr15:77924623-77926157	K562	blood:	n/a	chr15:77924787-77924801
38	CTCF	chr15:77925586-77926159	GM13977	blood:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
39	MYC	chr15:77925148-77926186	K562	blood:	n/a	chr15:77925671-77925678
40	MAZ	chr15:77925053-77926446	IMR90	lung:	n/a	chr15:77925671-77925678 chr15:77926409-77926419
41	STAT5A	chr15:77925691-77926184	GM12878	blood:	n/a	n/a
42	MAX	chr15:77925367-77926267	ECC-1	luminal epithelium:	n/a	chr15:77925671-77925678
43	CTCF	chr15:77925618-77925731	ProgFib	skin:	n/a	n/a
44	CTCF	chr15:77925217-77927134	HCT-116	colon:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926951-77926964 chr15:77926007-77926028 chr15:77926344-77926353
45	MAZ	chr15:77925626-77926203	Hela-S3	cervix:	n/a	chr15:77925671-77925678
46	TEAD4	chr15:77925695-77927069	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr15:77925660-77926391	HCT-116	colon:	n/a	chr15:77926011-77926021 chr15:77925950-77925963 chr15:77926006-77926025 chr15:77925952-77925964 chr15:77926007-77926021 chr15:77925947-77925966 chr15:77925870-77925880 chr15:77926009-77926022 chr15:77925994-77926008 chr15:77926011-77926023
48	SP1	chr15:77925672-77926289	A549	lung:	n/a	chr15:77925924-77925936 chr15:77925926-77925935
49	ZNF143	chr15:77925145-77927535	H1-hESC	embryonic stem cell:	n/a	chr15:77925310-77925328 chr15:77927084-77927103 chr15:77927155-77927173 chr15:77926483-77926501
50	ZBTB7A	chr15:77925234-77926238	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77912527..77913180-chr15:77925436..77926049,2	MCF-7	breast:
2	chr15:77912184..77913186-chr15:77925455..77926450,5	K562	blood:
3	chr15:77925536..77926440-chr15:77946558..77947953,8	MCF-7	breast:
4	chr15:77925603..77926173-chr15:77946987..77947667,2	MCF-7	breast:
5	chr15:77925249..77927257-chr15:78113205..78115049,24	MCF-7	breast:
6	chr15:77925299..77927652-chr15:78112444..78114100,3	MCF-7	breast:
7	chr15:77925435..77927439-chr15:78112259..78115090,22	K562	blood:
8	chr15:77835764..77836461-chr15:77925509..77926265,4	MCF-7	breast:
9	chr15:77925566..77926501-chr15:77951718..77952824,3	K562	blood:
10	chr15:77316379..77317255-chr15:77925626..77926458,2	MCF-7	breast:
11	chr15:77923251..77928296-chr15:78111448..78115771,8	MCF-7	breast:
12	chr15:77924601..77927275-chr15:77937272..77938910,2	K562	blood:
13	chr15:77925397..77928069-chr15:78112259..78116246,3	K562	blood:
14	chr15:77925519..77926294-chr15:78162494..78163468,3	MCF-7	breast:
15	chr15:77478486..77479274-chr15:77925458..77926114,2	MCF-7	breast:
16	chr15:77925532..77926425-chr15:78076783..78078398,4	MCF-7	breast:
17	chr15:77925072..77927787-chr15:78111223..78115888,59	MCF-7	breast:
18	chr15:77909817..77910574-chr15:77925500..77926398,3	MCF-7	breast:
19	chr15:77925509..77926398-chr15:78076937..78077835,4	K562	blood:
20	chr15:77925492..77926460-chr15:77947054..77947731,3	K562	blood:
21	chr15:77835401..77836400-chr15:77925681..77926470,4	K562	blood:
22	chr15:77924941..77926828-chr15:77932359..77934227,2	MCF-7	breast:
23	chr15:77925397..77927315-chr15:78112259..78115116,2	K562	blood:
24	chr15:77925387..77926440-chr15:77951721..77952677,7	MCF-7	breast:
25	chr15:77478581..77479511-chr15:77925565..77926440,3	MCF-7	breast:
26	chr11:60252998..60253911-chr15:77925589..77926334,2	MCF-7	breast:
27	chr15:77925576..77926405-chr15:78167119..78167924,3	K562	blood:
28	chr15:77925580..77926309-chr15:78156358..78157211,2	MCF-7	breast:

Variant related genes	Relation type
LINGO1	TF binding region
ENSG00000259281	Chromatin interaction
ENSG00000259666	Chromatin interaction
ENSG00000169783	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv904417	chr15:77851535-77935992	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904419	chr15:77897197-77943935	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv20199	chr15:77923484-77925974	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3327337	chr15:77923947-77926345	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3355911	chr15:77924122-77926670	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3403357	chr15:77924447-77926045	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77923000-77927400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr15:77923400-77926000	Active TSS	Brain Anterior Caudate	brain
3	chr15:77923400-77926000	Active TSS	Brain Substantia Nigra	brain
4	chr15:77923400-77927600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:77923600-77926000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:77923600-77926400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:77923600-77926600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:77924000-77927600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:77924400-77926000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:77924400-77926000	Active TSS	Brain Cingulate Gyrus	brain
11	chr15:77924400-77926000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:77924400-77926200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:77924400-77926200	Active TSS	Brain Angular Gyrus	brain
14	chr15:77924400-77926600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr15:77924400-77926600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr15:77924600-77926000	Active TSS	Aorta	Aorta
17	chr15:77924600-77926000	Active TSS	Psoas Muscle	Psoas
18	chr15:77924600-77926000	Bivalent/Poised TSS	Thymus	Thymus
19	chr15:77924600-77926000	Active TSS	A549	lung
20	chr15:77924600-77926000	Bivalent/Poised TSS	HSMM	muscle
21	chr15:77924600-77926000	Active TSS	K562	blood
22	chr15:77924600-77926600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr15:77924600-77927000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr15:77924600-77927400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr15:77924600-77927600	Enhancers	Fetal Heart	heart
26	chr15:77924800-77926400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr15:77925000-77925800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:77925200-77925800	Flanking Bivalent TSS/Enh	HMEC	breast
29	chr15:77925200-77926000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
30	chr15:77925200-77926000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr15:77925200-77926000	Transcr. at gene 5' and 3'	Right Atrium	heart
32	chr15:77925200-77926000	Flanking Active TSS	Right Ventricle	heart
33	chr15:77925200-77926000	Bivalent/Poised TSS	Osteobl	bone
34	chr15:77925200-77926200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:77925200-77926200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:77925200-77926200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:77925200-77926200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:77925400-77925800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:77925400-77925800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:77925400-77925800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr15:77925400-77925800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr15:77925400-77925800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:77925400-77925800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr15:77925400-77925800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:77925400-77925800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:77925400-77925800	Active TSS	Fetal Kidney	kidney
47	chr15:77925400-77925800	Flanking Active TSS	Lung	lung
48	chr15:77925400-77925800	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
49	chr15:77925400-77925800	Flanking Bivalent TSS/Enh	Spleen	Spleen
50	chr15:77925400-77926000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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